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Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

PLoS genetics, 2019-04, Vol.15 (4), p.e1008043-e1008043

2019

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A robust microsatellite instability detection model for unpaired colorectal cancer tissue samples

Chinese medical journal, 2023-05, Vol.136 (9), p.1082-1088

2023

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Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations

Human mutation, 2019-06, Vol.40 (6), p.801-815

2019

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Mosaicism and incomplete penetrance of PCDH19 mutations

Journal of medical genetics, 2019-02, Vol.56 (2), p.81-88

2019

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Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

Human mutation, 2017-08, Vol.38 (8), p.1002-1013

2017

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Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

Scientific reports, 2017-11, Vol.7 (1), p.15677-13, Article 15677

2017

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Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs

PLoS genetics, 2018-05, Vol.14 (5), p.e1007395-e1007395

2018

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RJAfinder: An automated tool for quantification of responding to joint attention behaviors in autism spectrum disorder using eye tracking data

Frontiers in neuroscience, 2022-11, Vol.16, p.915464-915464

2022

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Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

Genetics in medicine, 2019-06, Vol.21 (6), p.1330-1338

2019

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Establishment and validation of a multigene model to predict the risk of relapse in hormone receptor-positive early-stage Chinese breast cancer patients

Chinese medical journal, 2023-01, Vol.136 (2), p.184-193

2023

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A novel NGS-based microsatellite instability (MSI) status classifier with 9 loci for colorectal cancer patients

Journal of translational medicine, 2020-05, Vol.18 (1), p.215-215, Article 215

2020

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Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

Genetics in medicine, 2019-09, Vol.21 (9), p.2162-2162

2019

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Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening

Genetics in medicine, 2020-02, Vol.22 (2), p.450-450

2020

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MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals

Genomics, proteomics & bioinformatics, 2020-04, Vol.18 (2), p.140-149

2020

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Cep57, a NEDD1-binding pericentriolar material component, is essential for spindle pole integrity

Cell research, 2012-09, Vol.22 (9), p.1390-1401

2012

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Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome

Human mutation, 2015-09, Vol.36 (9), p.861-872

2015

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A new and improved method of library preparation for non-invasive prenatal testing: plasma to library express technology

Clinical chemistry and laboratory medicine, 2023-05, Vol.61 (6), p.999-1004

2023

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A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss

Prenatal diagnosis, 2024-08, Vol.44 (9), p.1043-1052

2024

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Targeted next-generation sequencing in papillary thyroid carcinoma of Chinese Han population

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.e17574-e17574

2019

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Adaptive parameter of standard deviation enhances the power of noninvasive prenatal screens

The journal of maternal-fetal & neonatal medicine, 2022-12, Vol.35 (25), p.6356-6362

2022

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Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

Journal of medical genetics, 2021-05, Vol.58 (5), p.326-333

2021

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Novel copy number variations and phenotypes of infantile epileptic spasms syndrome

Clinical genetics, 2024-08, Vol.106 (2), p.161-179

2024

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Genetic and Clinicopathologic Characteristics of Papillary Thyroid Carcinoma in the Chinese Population: High BRAF Mutation Allele Frequency, Multiple Driver Gene Mutations, and RET Fusion May Indicate More Advanced TN Stage

OncoTargets and therapy, 2022-01, Vol.15, p.147-157

2022

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Association of CDH1 mutation with prognosis in gastric adenocarcinoma

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.e15514-e15514

2019

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The concomitant EGFR T790M/C797S in trans and cis in three osimertinib-resistant lung adenocarcinoma patients

Journal of clinical oncology, 2019-05, Vol.37 (15_suppl), p.e20105-e20105

2019

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Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

A robust microsatellite instability detection model for unpaired colorectal cancer tissue samples

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations

Mosaicism and incomplete penetrance of PCDH19 mutations

Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs

RJAfinder: An automated tool for quantification of responding to joint attention behaviors in autism spectrum disorder using eye tracking data

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

Establishment and validation of a multigene model to predict the risk of relapse in hormone receptor-positive early-stage Chinese breast cancer patients

A novel NGS-based microsatellite instability (MSI) status classifier with 9 loci for colorectal cancer patients

Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals

Cep57, a NEDD1-binding pericentriolar material component, is essential for spindle pole integrity

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome

A new and improved method of library preparation for non-invasive prenatal testing: plasma to library express technology

A capture-based method of prenatal cell-free DNA screening for autosomal recessive non-syndromic hearing loss

Targeted next-generation sequencing in papillary thyroid carcinoma of Chinese Han population

Adaptive parameter of standard deviation enhances the power of noninvasive prenatal screens

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

Novel copy number variations and phenotypes of infantile epileptic spasms syndrome

Genetic and Clinicopathologic Characteristics of Papillary Thyroid Carcinoma in the Chinese Population: High BRAF Mutation Allele Frequency, Multiple Driver Gene Mutations, and RET Fusion May Indicate More Advanced TN Stage

Association of CDH1 mutation with prognosis in gastric adenocarcinoma

The concomitant EGFR T790M/C797S in trans and cis in three osimertinib-resistant lung adenocarcinoma patients

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